Variant: rs372487178 

    present in Gene: B3GAT3
    present in Chromosome: 11
    Position on Chromosome: 62616748
    Alleles of this Variant: C/T

rs372487178 in B3GAT3 gene and MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS PMID 24668659 2014 Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.

PMID 26086840 2015 A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.

PMID 21763480 2011 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

PMID 25893793 2015 Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.